Impaired mitochondrial glutamate transport in autosomal recessive neonatal myoclonic epilepsy. - Wikidata - awgldk - TriplyDB

Impaired mitochondrial glutamate transport in autosomal recessive neonatal myoclonic epilepsy.

Impaired mitochondrial glutamate transport in autosomal recessive neonatal myoclonic epilepsy.

http://www.wikidata.org/entity/Q33938567

about

Recent developments in the genetics of childhood epileptic encephalopathies: impact in clinical practice Advancing epilepsy genetics in the genomic era Mitochondrial disease in childhood: nuclear encoded Epileptic encephalopathies: new genes and new pathways Biochemical diagnosis of mitochondrial disorders SLC25A23 augments mitochondrial Ca²⁺ uptake, interacts with MCU, and induces oxidative stress-mediated cell death Treatment of epileptic encephalopathies Physiological and pathological roles of mitochondrial SLC25 carriers De Novo mutations in GNAO1, encoding a Gαo subunit of heterotrimeric G proteins, cause epileptic encephalopathy Novel 9q34.11 gene deletions encompassing combinations of four Mendelian disease genes: STXBP1, SPTAN1, ENG, and TOR1A.Clinical review of genetic epileptic encephalopathies Mutations in SLC25A22: hyperprolinaemia, vacuolated fibroblasts and presentation with developmental delay SLC25A22 is a novel gene for migrating partial seizures in infancy.Inhibition of the Mitochondrial Glutamate Carrier SLC25A22 in Astrocytes Leads to Intracellular Glutamate Accumulation.Searching for biomarkers of CDKL5 disorder: early-onset visual impairment in CDKL5 mutant mice.Mutations in SLC13A5 cause autosomal-recessive epileptic encephalopathy with seizure onset in the first days of life.Developing an animal model for infantile spasms: pathogenesis, problems and progress.AGC1 Deficiency Causes Infantile Epilepsy, Abnormal Myelination, and Reduced N-Acetylaspartate.Glutamate imaging (GluCEST) lateralizes epileptic foci in nonlesional temporal lobe epilepsy.Migrating partial seizures of infancy: expansion of the electroclinical, radiological and pathological disease spectrum.Mutation of the mitochondrial carrier SLC25A42 causes a novel form of mitochondrial myopathy in humans Mitochondrial glutamate carrier GC1 as a newly identified player in the control of glucose-stimulated insulin secretion.Mitochondria and energetic depression in cell pathophysiology Mitochondrial disease and epilepsy.Novel animal models of pediatric epilepsy.Inborn errors of metabolism causing epilepsy.Mitochondrial transporters of the SLC25 family and associated diseases: a review.Diagnostic Approach to Genetic Causes of Early-Onset Epileptic Encephalopathy.De novo mutations in SLC35A2 encoding a UDP-galactose transporter cause early-onset epileptic encephalopathy.Epileptic Encephalopathies-Clinical Syndromes and Pathophysiological Concepts.Functional Properties of the Mitochondrial Carrier System.A novel mutation in the SLC25A15 gene in a Turkish patient with HHH syndrome: functional analysis of the mutant protein.An integrative in silico system for predicting dysregulated genes in the human epileptic focus: Application to SLC transporters.Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis.Widespread neuronal expression of branched-chain aminotransferase in the CNS: implications for leucine/glutamate metabolism and for signaling by amino acids.Clinical spectrum of early onset epileptic encephalopathies caused by KCNQ2 mutation.Glutamate Transporters in the Blood-Brain Barrier.The functional genomics laboratory: functional validation of genetic variants.SLC25A18;A22 cotransport Glu; H+ from cytosol to mitochondrial matrix Early infantile epileptic encephalopathy associated with the disrupted gene encoding Slit-Robo Rho GTPase activating protein 2 (SRGAP2).

P2860

a31f6d163aea508d992c5c3ae122b3c9c8c14731

P248

Q26777746-3B2C604D-8328-4061-8234-FD6F027CE409 Q26798035-60FBD35D-64A2-4ACA-B187-C55E70D30C37 Q26820866-9F8961E5-734E-498A-8F0D-7AF961C5EEE4 Q27027982-4B012A1B-A0A6-47B3-8035-CBE4729C69DD Q27990527-C8177994-F934-4403-B1CE-4D6D5C144879 Q28118248-DA355334-EF2E-4939-8880-EBD636C2CEF3 Q28285293-A9C37C66-6182-4D31-AD43-F82071B4C9B2 Q28297551-79332518-E5FA-40F7-93FF-3C28B0CE0D20 Q28297699-645FBBEA-E19A-4FAE-B4A2-9931191AB913 Q30418208-BEA86C3A-D97D-4496-8714-778177AFD979 Q30537230-67FB5409-7D47-4CB1-94A8-5F9C5B586113 Q33569490-6025FDE8-2D55-4318-85A3-DF672CB44132 Q33651270-08AE0D0C-2DB0-48B8-9FE6-A1BE43422C8C Q33740671-122504B7-8227-4F40-8919-83A5B6850778 Q33762246-353C3BC0-0623-4484-9C64-F542879CD881 Q33858770-A0FEA3A3-2DEB-447A-A759-64463D5CD967 Q34192123-63A74FC3-3EBD-469B-8BFC-BE19A9EB2588 Q34422339-BFDC7DA0-3ED1-496D-974A-7D9E020878E9 Q36455556-53DC077E-E66F-4DD2-9315-D995F9F13260 Q36789594-B786EE7C-89D4-4F8E-82DB-9C0A7D1A19E0 Q36987175-F11A1D4F-4A39-45B1-9A2C-63A57F1EEE44 Q37375716-FF9D0768-8A78-4BE9-B0CE-3FACAFE41427 Q37535535-5A476F18-A44E-4D38-BA34-F274DF9FC29B Q37979255-C61FA9A4-020B-4368-9DEE-9BCB7BF4CB09 Q37998957-2B0A2D5E-38E4-45AD-9275-50C1409C56A6 Q38045430-46577FF4-01D4-4EE1-AF6E-62A6807B4303 Q38209474-90C77D61-56F3-4898-9937-913D30AD6732 Q38566303-DC3852CE-D7BF-4243-AED8-3C983D483F98 Q39081926-B15251AC-3D25-494B-8E20-B67E6991883D Q39147509-EA7AF376-F98A-439F-B653-D914BE081A5B Q39316485-83F193F9-3286-4496-9C4A-4E270CEE53ED Q39419727-A25C182A-FF22-464C-8E7D-7433B958DA6A Q39597492-BA38AEC5-473B-44BD-8E1D-B2A25E16D8F2 Q39866746-1037167F-0D02-4641-A62A-E276740F7CC9 Q42509436-A7276D92-4732-4726-AFC1-745579504EAB Q45406859-FE0485EC-94BD-4EE1-91CD-BE36AAF680C7 Q47923107-F4F358A6-0A4A-4906-B303-954FD116101B Q49991801-AEE36287-3B71-4D9B-99BE-463D6C3176F1 Q50299471-817F00EA-61E9-4090-AFEC-2613145CDF14 Q52618608-FD1429B4-C9AF-403C-8118-B85825E8B4A3

P2860

Impaired mitochondrial glutamate transport in autosomal recessive neonatal myoclonic epilepsy.

http://www.wikidata.org/entity/Q33938567

description

2004 nî lūn-bûn

@nan

2004 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած

@hyw

2004 թվականի դեկտեմբերին հրատարակված գիտական հոդված

@hy

2004年の論文

@ja

2004年論文

@yue

2004年論文

@zh-hant

2004年論文

@zh-hk

2004年論文

@zh-mo

2004年論文

@zh-tw

2004年论文

@wuu

name

Impaired mitochondrial glutama ...... e neonatal myoclonic epilepsy.

@ast

Impaired mitochondrial glutama ...... e neonatal myoclonic epilepsy.

@en

type

label

Impaired mitochondrial glutama ...... e neonatal myoclonic epilepsy.

@ast

Impaired mitochondrial glutama ...... e neonatal myoclonic epilepsy.

@en

prefLabel

Impaired mitochondrial glutama ...... e neonatal myoclonic epilepsy.

@ast

Impaired mitochondrial glutama ...... e neonatal myoclonic epilepsy.

@en

P1433

Q33938567-E488C7B3-B301-4B91-8F7F-D9BDC230DD6E

P1476

Q33938567-3E71102E-9F3A-40BE-81E5-AFC058A8A260

P2093

Q33938567-09F9FEB3-C7D9-4581-B90E-DECC8208EFE5

Q33938567-0E42BC6B-14C1-410C-9B3F-7FC5DA40AF3F

Q33938567-3556881C-6DC3-464A-9273-A3BC393A3D7A

Q33938567-53329D28-1654-43E5-9A43-3FFE9C733A37

Q33938567-561D1177-CF46-4C24-9080-08F13E659DFA

Q33938567-6B527937-6CB8-4515-A167-08B669F11337

Q33938567-7B74957B-1D88-46DE-B127-0FB69A11CC43

Q33938567-DD0C65F6-400C-448F-83AE-A14E050B409E

Q33938567-F123F23D-016D-4ADD-AC61-94C2DF435792

P2860

Q33938567-00BBEB07-2819-40EF-8A3B-EE4CB8576F72

Q33938567-026D3A6E-97D7-4173-8859-86AD49318054

Q33938567-08BEEBE8-3390-4B2B-899E-EE20A3E50F3C

Q33938567-309F6A20-3D6E-46AD-994F-F6778D6BCC0C

Q33938567-363506E2-117F-4E3D-BA8C-90C213878C75

Q33938567-44C0703B-5D8E-4D23-A559-771A968FAB6B

Q33938567-5BE9F3B5-F086-46BF-8DA5-E9E0358693AF

Q33938567-75E112CC-A13E-4DE3-8535-0452C76DB49F

Q33938567-9DC9F72C-BE07-46DE-A9A3-DECC6AB824B5

Q33938567-A03BEF02-4DFF-4BD1-B1FC-6A62CA0D2685

P304

Q33938567-1D340033-438E-44AE-A7EC-3FDB6E25366D

P31

Q33938567-905eb752-277c-4345-b76e-1b381fcb2f35

Q33938567-E88E4368-93C7-4262-8015-3B55BF828A57

P356

Q33938567-4A458796-D976-424D-9261-6D5083AFD06E

P407

Q33938567-57CF2517-6F78-4F91-864D-E4D7DE34007D

P433

Q33938567-A49C330D-24CE-4CE8-B5D6-657C86C3E096

P478

Q33938567-603A7550-4D50-4767-8D52-C581110421FD

P50

Q33938567-229BEE62-7BEC-4D88-8D97-683C4AFA0113

Q33938567-2CB4C276-7D61-433C-8139-86DE87EB9D0E

Q33938567-3CD8F83D-DC3E-4FCB-B609-87EDB2937011

Q33938567-705C714F-08E6-47E5-BE6D-87AD523A601B

Q33938567-8E4D3211-6F25-4265-B56C-9511B8CBA1DE

P577

Q33938567-922C4839-AB90-43C2-A60E-FABB517AEC8D

P5875

Q33938567-C5C062F6-6238-4595-BEBF-E579E5091C4E

P698

Q33938567-69ED8FEA-DE35-4FBE-B993-D3FBB154ADEB

P932

Q33938567-ABF23648-1B7B-49EE-AD8E-E8AB00F74360

P356

P1433

American Journal of Human Genetics

P1476

Impaired mitochondrial glutama ...... e neonatal myoclonic epilepsy.

@en

P2093

Annick Raas-Rothschild

http://www.w3.org/2001/XMLSchema#string

Ferdinando Palmieri

http://www.w3.org/2001/XMLSchema#string

Ferechte Encha-Razavi

http://www.w3.org/2001/XMLSchema#string

Florence Molinari

http://www.w3.org/2001/XMLSchema#string

Luigi Palmieri

http://www.w3.org/2001/XMLSchema#string

Michel Vekemans

http://www.w3.org/2001/XMLSchema#string

Noman Kadhom

http://www.w3.org/2001/XMLSchema#string

Pierre Rustin

http://www.w3.org/2001/XMLSchema#string

Ziva Ben-Neriah

http://www.w3.org/2001/XMLSchema#string

P2860

Identification of the mitochondrial glutamate transporter. Bacterial expression, reconstitution, functional characterization, and tissue distribution of two human isoforms

A rapid and sensitive method for the quantitation of microgram quantities of protein utilizing the principle of protein-dye binding

Site-directed mutagenesis by overlap extension using the polymerase chain reaction

The mitochondrial transporter family (SLC25): physiological and pathological implications

Contribution of glutamate dehydrogenase to mitochondrial glutamate metabolism studied by (13)C and (31)P nuclear magnetic resonance.

Developmental changes in the Ca2+-regulated mitochondrial aspartate-glutamate carrier aralar1 in brain and prominent expression in the spinal cord.

Infantile epileptic syndromes and metabolic etiologies.

Endogenous control of epilepsy: the nigral inhibitory system.

An ultrastructural description of glutamate-like immunoreactivity in the rat cerebellar cortex.

Fate and expression of the deleted mitochondrial DNA differ between human heteroplasmic skin fibroblast and Epstein-Barr virus-transformed lymphocyte cultures.

P304

334-339

http://www.w3.org/2001/XMLSchema#string

P31

scholarly article

P356

10.1086/427564

http://www.w3.org/2001/XMLSchema#string

P407

P433

2

http://www.w3.org/2001/XMLSchema#string

P478

76

http://www.w3.org/2001/XMLSchema#string

P50

Tania Attié-Bitach

Giuseppe Fiermonte

Laurence Colleaux

P577

2004-12-08T00:00:00Z

http://www.w3.org/2001/XMLSchema#dateTime

P5875

8135189

http://www.w3.org/2001/XMLSchema#string

P698

15592994

http://www.w3.org/2001/XMLSchema#string

P932

1196378

http://www.w3.org/2001/XMLSchema#string